Tay-Sachs Disease

Tay-Sachs disease (TSD) is a genetic disorder. It occurs when a fatty substance builds up in the brain. This causes progressive destruction of the brain. There are three forms: Given the best of care, all children with the infantile form die by the age of five.

  • Causes

    TSD is caused by the absence of an enzyme. This enzyme is needed to break down a fatty substance called ganglioside (GM2). As a result, GM2 builds up. The build up in the brain causes damage.

    TSD occurs when both parents pass on the faulty genes. A person can have just one copy of the faulty gene. In this case, there are no symptoms. The person is called a carrier.

    Genetic Material
    Chromosome DNA
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  • Definition

    Tay-Sachs disease (TSD) is a genetic disorder. It occurs when a fatty substance builds up in the brain. This causes progressive destruction of the brain. There are three forms:

    • Infantile-onset
    • Juvenile-onset
    • Adult-onset

    Given the best of care, all children with the infantile form die by the age of five.

  • Diagnosis

    The doctor will ask about your child's symptoms and medical history. A physical exam will be done. The doctor may examine your child's eyes to look for a cherry red spot on the retina.

    Your child's bodily fluids may be tested. This can be done with blood tests.

  • Prevention

    There are no known ways to prevent Tay-Sachs disease. If you are a carrier of the gene that causes TSD, you can talk to a genetic counselor before deciding to have children. Prenatal testing during the first trimester is available.

  • Risk Factors

    Factors that increase your chance for TSD include:

    • Having parents who are carriers of the TSD gene
    • Race: Eastern European (Ashkenazi) Jewish descent
    • TSD is also frequently found in French Canadian and Cajun populations

  • Symptoms

    Babies with TSD may seem to develop normally until about 4-5 months of age when symptoms begin to occur. Symptoms may include:

    • Floppy body position
    • Shrill cry
    • Decreased eye contact
    • Increased startle reaction
    • Loss of motor skills
    • Enlarged head
    • Vision loss or blindness
    • Deafness
    • Difficulty swallowing
    • Muscular difficulties such as spastic muscles, weakness, or paralysis
    • Intellectual disability
    • Seizures

    In some cases, the symptoms do not begin until age 2-5 years old. The condition progresses slowly, but most children with Tay-Sachs disease do not live beyond age 15 years. Symptoms may include:

    • Loss of the ability to speak
    • Developmental delay and intellectual disability
    • Loss of bowel control
    • Sleep problems
    • Movement disorder such as difficulty walking and muscle weakness
    • Tremor
    • Slurred speech
    • Psychiatric problems
    • Loss of vision
    • Spasticity and seizures

  • Treatment

    There is presently no treatment for TSD. Treatment is aimed at managing symptoms.